ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DST

Gene summary

Gene information	Gene symbol	DST
	Gene ID	667
	Gene name	dystonin
	Synonyms	BP240\|BPA\|BPAG1\|CATX-15\|CATX15\|D6S1101\|DMH\|DT\|EBSB2\|HSAN6\|MACF2
	Cytomap	6p12.1
	Type of gene	protein-coding
	Description	dystoninbullous pemphigoid antigen 1dystonia musculorum proteinhemidesmosomal plaque proteintrabeculin-beta
	Modification date	20180523
	UniProtAcc	Q03001
	Context	PubMed: DST [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
DST	GO:0009611	response to wounding	19403692

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Exon skipping events across known transcript of Ensembl for DST from UCSC genome browser

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Gene isoform structures and expression levels for DST

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for DST

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_460320	6	56324928:56325052:56327843:56327954:56328362:56328556	56327843:56327954	ENSG00000151914.13	ENST00000523597.1,ENST00000312431.6,ENST00000244364.6,ENST00000482156.1,ENST00000466429.1
exon_skip_460322	6	56328362:56328562:56329482:56329554:56330875:56330911	56329482:56329554	ENSG00000151914.13	ENST00000370754.5,ENST00000361203.3,ENST00000446842.2,ENST00000370788.2,ENST00000421834.2,ENST00000370769.4
exon_skip_460323	6	56330875:56330993:56333779:56333797:56334680:56334754	56333779:56333797	ENSG00000151914.13	ENST00000312431.6,ENST00000244364.6,ENST00000361203.3,ENST00000370788.2
exon_skip_460325	6	56330875:56330993:56334662:56334755:56334925:56335080	56334662:56334755	ENSG00000151914.13	ENST00000370754.5,ENST00000446842.2,ENST00000421834.2,ENST00000370769.4
exon_skip_460327	6	56335903:56336066:56336856:56337020:56338670:56338788	56336856:56337020	ENSG00000151914.13	ENST00000370754.5,ENST00000312431.6,ENST00000244364.6,ENST00000361203.3,ENST00000446842.2,ENST00000370788.2,ENST00000370769.4
exon_skip_460328	6	56335903:56336066:56336937:56337020:56338670:56338788	56336937:56337020	ENSG00000151914.13	ENST00000421834.2
exon_skip_460330	6	56392290:56392532:56393638:56393723:56394245:56394572	56393638:56393723	ENSG00000151914.13	ENST00000370754.5,ENST00000312431.6,ENST00000244364.6,ENST00000340834.4,ENST00000446842.2,ENST00000421834.2,ENST00000370769.4
exon_skip_460331	6	56393638:56393723:56394245:56394572:56394771:56394931	56394245:56394572	ENSG00000151914.13	ENST00000370754.5,ENST00000312431.6,ENST00000244364.6,ENST00000340834.4,ENST00000446842.2,ENST00000421834.2,ENST00000370769.4
exon_skip_460332	6	56394245:56394572:56394771:56394931:56397141:56397308	56394771:56394931	ENSG00000151914.13	ENST00000370754.5,ENST00000312431.6,ENST00000244364.6,ENST00000340834.4,ENST00000446842.2,ENST00000421834.2,ENST00000370769.4
exon_skip_460333	6	56462537:56462804:56463273:56463507:56464866:56465019	56463273:56463507	ENSG00000151914.13	ENST00000370754.5,ENST00000312431.6,ENST00000244364.6,ENST00000361203.3,ENST00000446842.2,ENST00000370788.2,ENST00000421834.2,ENST00000370769.4
exon_skip_460337	6	56464866:56465019:56466240:56466474:56467679:56467829	56466240:56466474	ENSG00000151914.13	ENST00000312431.6,ENST00000361203.3
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENSG00000151914.13	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4
exon_skip_460368	6	56482038:56482216:56482783:56485513:56489327:56489426	56482783:56485513	ENSG00000151914.13	ENST00000370765.6
exon_skip_460379	6	56501354:56501450:56504056:56504161:56504247:56504409	56504056:56504161	ENSG00000151914.13	ENST00000370754.5,ENST00000312431.6,ENST00000244364.6,ENST00000361203.3,ENST00000446842.2,ENST00000370765.6,ENST00000370788.2,ENST00000421834.2,ENST00000439203.1,ENST00000520645.1,ENST00000518935.1,ENST00000370769.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DST

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_460320	6	56324928:56325052:56327843:56327954:56328362:56328556	56327843:56327954	ENSG00000151914.13	ENST00000244364.6,ENST00000312431.6,ENST00000466429.1,ENST00000482156.1,ENST00000523597.1
exon_skip_460322	6	56328362:56328562:56329482:56329554:56330875:56330911	56329482:56329554	ENSG00000151914.13	ENST00000370754.5,ENST00000370769.4,ENST00000421834.2,ENST00000446842.2,ENST00000370788.2,ENST00000361203.3
exon_skip_460323	6	56330875:56330993:56333779:56333797:56334680:56334754	56333779:56333797	ENSG00000151914.13	ENST00000244364.6,ENST00000312431.6,ENST00000370788.2,ENST00000361203.3
exon_skip_460325	6	56330875:56330993:56334662:56334755:56334925:56335080	56334662:56334755	ENSG00000151914.13	ENST00000370754.5,ENST00000370769.4,ENST00000421834.2,ENST00000446842.2
exon_skip_460327	6	56335903:56336066:56336856:56337020:56338670:56338788	56336856:56337020	ENSG00000151914.13	ENST00000244364.6,ENST00000370754.5,ENST00000370769.4,ENST00000446842.2,ENST00000312431.6,ENST00000370788.2,ENST00000361203.3
exon_skip_460328	6	56335903:56336066:56336937:56337020:56338670:56338788	56336937:56337020	ENSG00000151914.13	ENST00000421834.2
exon_skip_460330	6	56392290:56392532:56393638:56393723:56394245:56394572	56393638:56393723	ENSG00000151914.13	ENST00000244364.6,ENST00000370754.5,ENST00000370769.4,ENST00000421834.2,ENST00000446842.2,ENST00000312431.6,ENST00000340834.4
exon_skip_460331	6	56393638:56393723:56394245:56394572:56394771:56394931	56394245:56394572	ENSG00000151914.13	ENST00000244364.6,ENST00000370754.5,ENST00000370769.4,ENST00000421834.2,ENST00000446842.2,ENST00000312431.6,ENST00000340834.4
exon_skip_460332	6	56394245:56394572:56394771:56394931:56397141:56397308	56394771:56394931	ENSG00000151914.13	ENST00000244364.6,ENST00000370754.5,ENST00000370769.4,ENST00000421834.2,ENST00000446842.2,ENST00000312431.6,ENST00000340834.4
exon_skip_460333	6	56462537:56462804:56463273:56463507:56464866:56465019	56463273:56463507	ENSG00000151914.13	ENST00000244364.6,ENST00000370754.5,ENST00000370769.4,ENST00000421834.2,ENST00000446842.2,ENST00000312431.6,ENST00000370788.2,ENST00000361203.3
exon_skip_460337	6	56464866:56465019:56466240:56466474:56467679:56467829	56466240:56466474	ENSG00000151914.13	ENST00000312431.6,ENST00000361203.3
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENSG00000151914.13	ENST00000370754.5,ENST00000370769.4,ENST00000446842.2,ENST00000312431.6,ENST00000361203.3
exon_skip_460368	6	56482038:56482216:56482783:56485513:56489327:56489426	56482783:56485513	ENSG00000151914.13	ENST00000370765.6
exon_skip_460379	6	56501354:56501450:56504056:56504161:56504247:56504409	56504056:56504161	ENSG00000151914.13	ENST00000244364.6,ENST00000370754.5,ENST00000370769.4,ENST00000421834.2,ENST00000446842.2,ENST00000312431.6,ENST00000370788.2,ENST00000361203.3,ENST00000439203.1,ENST00000520645.1,ENST00000370765.6,ENST00000518935.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for DST

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST

Start of skipped exon

End of skipped exon

ORF

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST

Start of skipped exon

End of skipped exon

ORF

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Infer the effects of exon skipping event on protein functional features for DST

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST

Length of mRNA

Length of AA seq.

Genomic start

Genomic end

mRNA start

mRNA end

AA start

AA end

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST

Length of mRNA

Length of AA seq.

Genomic start

Genomic end

mRNA start

mRNA end

AA start

AA end

Lost protein functional features of individual exon skipping events in TCGA.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

Lost protein functional features of individual exon skipping events in GTEx.

UniProt acc.

Start of exon skipping (AA)

End of exon skipping (AA)

Protein feature start (AA)

Protein feature end (AA)

Category of protein feature

Description of feature

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SNVs in the skipped exons for DST

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

DST_ESCA_exon_skip_460368_psi_boxplot.png
boxplot

DST_HNSC_exon_skip_460368_psi_boxplot.png
boxplot

DST_OV_exon_skip_460322_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_460323	56333780	56333797	56333787	56333787	Frame_Shift_Del	C	-	p.G7201fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_460327	56336857	56337020	56336957	56336957	Frame_Shift_Del	T	-	p.N7322fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_460328	56336938	56337020	56336957	56336957	Frame_Shift_Del	T	-	p.N7322fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_460331	56394246	56394572	56394359	56394359	Frame_Shift_Del	C	-	p.E5797fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460333	56463274	56463507	56463323	56463323	Frame_Shift_Del	T	-	p.K3929fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56468884	56468884	Frame_Shift_Del	T	-	p.K3481fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56468948	56468948	Frame_Shift_Del	A	-	p.F3460fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56468954	56468954	Frame_Shift_Del	T	-	p.N3458fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56468954	56468954	Frame_Shift_Del	T	-	p.N3458fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56469317	56469317	Frame_Shift_Del	G	-	p.P3337fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56469345	56469345	Frame_Shift_Del	T	-	p.S3328fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_460338	56468635	56474142	56469407	56469407	Frame_Shift_Del	T	-	p.K3307fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56469414	56469414	Frame_Shift_Del	G	-	p.Q3305fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56469414	56469414	Frame_Shift_Del	G	-	p.Q3305fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56469569	56469569	Frame_Shift_Del	T	-	p.N3253fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56469583	56469583	Frame_Shift_Del	T	-	p.E3248fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56469928	56469928	Frame_Shift_Del	A	-	p.F3133fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56470003	56470003	Frame_Shift_Del	A	-	p.F3108fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56470038	56470038	Frame_Shift_Del	T	-	p.S3097fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56470093	56470093	Frame_Shift_Del	T	-	p.K3078fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56470093	56470093	Frame_Shift_Del	T	-	p.K3078fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56470269	56470269	Frame_Shift_Del	T	-	p.M3020fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56470405	56470405	Frame_Shift_Del	T	-	p.K2974fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56470629	56470629	Frame_Shift_Del	T	-	p.T2900fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56470667	56470667	Frame_Shift_Del	A	-	p.V2887fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56470849	56470849	Frame_Shift_Del	A	-	p.L2827fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56470874	56470874	Frame_Shift_Del	T	-	p.N2818fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_460338	56468635	56474142	56470874	56470874	Frame_Shift_Del	T	-	p.N2818fs
UCEC	TCGA-AP-A0LT-01	exon_skip_460338	56468635	56474142	56470905	56470905	Frame_Shift_Del	C	-	p.A2630fs
KIRC	TCGA-AS-3778-01	exon_skip_460338	56468635	56474142	56471391	56471392	Frame_Shift_Del	AG	-	p.SL2645fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56471803	56471803	Frame_Shift_Del	A	-	p.F2508fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56471951	56471951	Frame_Shift_Del	C	-	p.G2459fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56472073	56472073	Frame_Shift_Del	A	-	p.F2418fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460338	56468635	56474142	56472115	56472115	Frame_Shift_Del	G	-	p.A2404fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56473013	56473013	Frame_Shift_Del	A	-	p.L2105fs
BRCA	TCGA-AO-A03T-01	exon_skip_460338	56468635	56474142	56473071	56473086	Frame_Shift_Del	TGACTTGAGAACTTTC	-	p.E1577fs
BRCA	TCGA-AO-A03T-01	exon_skip_460338	56468635	56474142	56473071	56473086	Frame_Shift_Del	TGACTTGAGAACTTTC	-	p.E1903fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56473598	56473598	Frame_Shift_Del	T	-	p.N1910fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56473672	56473672	Frame_Shift_Del	T	-	p.K1885fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460338	56468635	56474142	56473704	56473704	Frame_Shift_Del	A	-	p.S1875fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460338	56468635	56474142	56473906	56473906	Frame_Shift_Del	T	-	p.K1807fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460368	56482784	56485513	56483287	56483287	Frame_Shift_Del	T	-	p.M1849fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460368	56482784	56485513	56483364	56483364	Frame_Shift_Del	T	-	p.N1823fs
STAD	TCGA-BR-7723-01	exon_skip_460368	56482784	56485513	56483374	56483383	Frame_Shift_Del	TGTGCTGCCC	-	p.1817_1820del
LIHC	TCGA-DD-A3A0-01	exon_skip_460368	56482784	56485513	56483440	56483440	Frame_Shift_Del	T	-	p.T1798fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460368	56482784	56485513	56483552	56483552	Frame_Shift_Del	T	-	p.K1760fs
LIHC	TCGA-DD-A3A0-01	exon_skip_460368	56482784	56485513	56483920	56483920	Frame_Shift_Del	T	-	p.T1638fs
LIHC	TCGA-DD-A39Y-01	exon_skip_460368	56482784	56485513	56483969	56483969	Frame_Shift_Del	A	-	p.F1621fs
STAD	TCGA-CG-5728-01	exon_skip_460368	56482784	56485513	56484537	56484610	Frame_Shift_Del	TTCTCCGCCTGATCCTTCCTTTCCAGCTCCAACTTAAGGCATCTGAGTGTATTATTTGTTTCATCTAGTTTATC	-	p.1408_1432del
LIHC	TCGA-DD-A1EG-01	exon_skip_460368	56482784	56485513	56484643	56484643	Frame_Shift_Del	T	-	p.T1397fs
STAD	TCGA-BR-4361-01	exon_skip_460368	56482784	56485513	56484643	56484643	Frame_Shift_Del	T	-	p.T1397fs
STAD	TCGA-MX-A5UJ-01	exon_skip_460368	56482784	56485513	56484643	56484643	Frame_Shift_Del	T	-	p.T1397fs
KIRC	TCGA-CJ-5677-01	exon_skip_460368	56482784	56485513	56484970	56484971	Frame_Shift_Del	AG	-	p.1288_1288del
LGG	TCGA-VV-A829-01	exon_skip_460368	56482784	56485513	56484991	56484994	Frame_Shift_Del	TCTT	-	p.KR1280fs
COAD	TCGA-AU-6004-01	exon_skip_460368	56482784	56485513	56485020	56485020	Frame_Shift_Del	T	-	p.N1271fs
STAD	TCGA-HU-A4GN-01	exon_skip_460368	56482784	56485513	56485020	56485020	Frame_Shift_Del	T	-	p.N1271fs
LIHC	TCGA-DD-A1EG-01	exon_skip_460368	56482784	56485513	56485150	56485150	Frame_Shift_Del	T	-	p.R1228fs
SKCM	TCGA-FS-A1ZC-06	exon_skip_460338	56468635	56474142	56471405	56471406	Frame_Shift_Ins	-	C	p.T2641fs
LIHC	TCGA-BC-A112-01	exon_skip_460338	56468635	56474142	56471588	56471589	Frame_Shift_Ins	-	A	p.*2580fs
LIHC	TCGA-BC-A112-01	exon_skip_460338	56468635	56474142	56472126	56472127	Frame_Shift_Ins	-	G	p.A2401fs
LIHC	TCGA-BC-A112-01	exon_skip_460338	56468635	56474142	56472828	56472829	Frame_Shift_Ins	-	T	p.NI2166fs
HNSC	TCGA-QK-A6IG-01	exon_skip_460368	56482784	56485513	56482903	56482904	Frame_Shift_Ins	-	AATG	p.K1977fs
HNSC	TCGA-CQ-5327-01	exon_skip_460368	56482784	56485513	56483703	56483704	Frame_Shift_Ins	-	G	p.R1710fs
LIHC	TCGA-BC-A112-01	exon_skip_460368	56482784	56485513	56485019	56485020	Frame_Shift_Ins	-	T	p.K1271fs
UCEC	TCGA-D1-A17Q-01	exon_skip_460320	56327844	56327954	56327871	56327871	Nonsense_Mutation	G	T	p.C5034*
OV	TCGA-24-1549-01	exon_skip_460322	56329483	56329554	56329537	56329537	Nonsense_Mutation	T	A	p.K7333*
BLCA	TCGA-DK-A3IU-01	exon_skip_460325	56334663	56334755	56334713	56334713	Nonsense_Mutation	G	A	p.Q5388*
BLCA	TCGA-DK-A3IU-01	exon_skip_460325	56334663	56334755	56334713	56334713	Nonsense_Mutation	G	A	p.Q7476*
PAAD	TCGA-HZ-7289-01	exon_skip_460330	56393639	56393723	56393693	56393693	Nonsense_Mutation	G	A	p.Q5845*
UCEC	TCGA-BS-A0UF-01	exon_skip_460338	56468635	56474142	56468781	56468781	Nonsense_Mutation	C	A	p.E3338*
UCEC	TCGA-AX-A0J0-01	exon_skip_460338	56468635	56474142	56469027	56469027	Nonsense_Mutation	C	A	p.E3256*
LUAD	TCGA-55-7283-01	exon_skip_460338	56468635	56474142	56469665	56469665	Nonsense_Mutation	G	C	p.S3221*
LUAD	TCGA-55-8511-01	exon_skip_460338	56468635	56474142	56469747	56469747	Nonsense_Mutation	C	A	p.E3194*
BLCA	TCGA-E7-A4IJ-01	exon_skip_460338	56468635	56474142	56470221	56470221	Nonsense_Mutation	C	A	p.E3036*
UCEC	TCGA-B5-A0JR-01	exon_skip_460338	56468635	56474142	56471184	56471184	Nonsense_Mutation	C	A	p.G2537*
SKCM	TCGA-FR-A8YC-06	exon_skip_460338	56468635	56474142	56471361	56471361	Nonsense_Mutation	G	A	p.Q2656*
CESC	TCGA-Q1-A5R2-01	exon_skip_460338	56468635	56474142	56471441	56471441	Nonsense_Mutation	G	C	p.S2629*
LUAD	TCGA-99-7458-01	exon_skip_460338	56468635	56474142	56471763	56471763	Nonsense_Mutation	C	A	p.E2522*
HNSC	TCGA-CV-7437-01	exon_skip_460338	56468635	56474142	56471961	56471961	Nonsense_Mutation	G	A	p.Q2456*
STAD	TCGA-VQ-AA64-01	exon_skip_460338	56468635	56474142	56472510	56472510	Nonsense_Mutation	C	A	p.E2273*
STAD	TCGA-VQ-AA64-01	exon_skip_460338	56468635	56474142	56472570	56472570	Nonsense_Mutation	C	A	p.E2253*
LUAD	TCGA-05-4427-01	exon_skip_460338	56468635	56474142	56472827	56472827	Nonsense_Mutation	A	T	p.L2167*
UCEC	TCGA-BK-A0C9-01	exon_skip_460338	56468635	56474142	56473404	56473404	Nonsense_Mutation	C	A	p.E1797*
LUAD	TCGA-62-8395-01	exon_skip_460338	56468635	56474142	56473731	56473731	Nonsense_Mutation	G	A	p.Q1866*
UCEC	TCGA-B5-A11E-01	exon_skip_460338	56468635	56474142	56473941	56473941	Nonsense_Mutation	C	A	p.E1618*
HNSC	TCGA-HD-A6I0-01	exon_skip_460368	56482784	56485513	56482918	56482918	Nonsense_Mutation	C	A	p.E1972*
UCEC	TCGA-AP-A0LM-01	exon_skip_460368	56482784	56485513	56483428	56483428	Nonsense_Mutation	C	A	p.E1802*
UCS	TCGA-ND-A4WC-01	exon_skip_460368	56482784	56485513	56484298	56484298	Nonsense_Mutation	G	A	p.R1512*
UCS	TCGA-ND-A4WC-01	exon_skip_460368	56482784	56485513	56484298	56484298	Nonsense_Mutation	G	A	p.R1512X
KIRC	TCGA-B0-5094-01	exon_skip_460368	56482784	56485513	56484745	56484745	Nonsense_Mutation	C	A	p.E1363*
KIRC	TCGA-B0-5094-01	exon_skip_460368	56482784	56485513	56484745	56484745	Nonsense_Mutation	C	A	p.E1363X
BLCA	TCGA-XF-A9SM-01	exon_skip_460368	56482784	56485513	56485189	56485189	Nonsense_Mutation	C	A	p.E1215*
ESCA	TCGA-L5-A8NR-01	exon_skip_460368	56482784	56485513	56485366	56485366	Nonsense_Mutation	G	A	p.R1156*
ESCA	TCGA-L5-A8NR-01	exon_skip_460368	56482784	56485513	56485366	56485366	Nonsense_Mutation	G	A	p.R1156X
UCEC	TCGA-AP-A0LM-01	exon_skip_460368	56482784	56485513	56485366	56485366	Nonsense_Mutation	G	A	p.R1156*
COAD	TCGA-AM-5820-01	exon_skip_460379	56504057	56504161	56504059	56504059	Nonsense_Mutation	C	A	p.E451X
BLCA	TCGA-DK-AA71-01	exon_skip_460379	56504057	56504161	56504131	56504131	Nonsense_Mutation	C	A	p.E931*
COAD	TCGA-CA-6717-01	exon_skip_460379	56504057	56504161	56504149	56504149	Nonsense_Mutation	C	A	p.E421X
BRCA	TCGA-A8-A06X-01	exon_skip_460332	56394772	56394931	56394933	56394933	Splice_Site	T	C	e46-2
BRCA	TCGA-A8-A06X-01	exon_skip_460332	56394772	56394931	56394933	56394933	Splice_Site	T	C	e59-2

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-L5-A8NR-01
	Cancer type: ESCA
	ESID: exon_skip_460368
	Skipped exon start: 56482784
	Skipped exon end: 56485513
	Mutation start: 56485366
	Mutation end: 56485366
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R1156X
	Sample: TCGA-L5-A8NR-01
	Cancer type: ESCA
	ESID: exon_skip_460368
	Skipped exon start: 56482784
	Skipped exon end: 56485513
	Mutation start: 56485366
	Mutation end: 56485366
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R1156*
exon_skip_373234_ESCA_TCGA-L5-A8NR-01.png
exon_skip_384513_ESCA_TCGA-L5-A8NR-01.png
exon_skip_460368_ESCA_TCGA-L5-A8NR-01.png
	Sample: TCGA-HD-A6I0-01
	Cancer type: HNSC
	ESID: exon_skip_460368
	Skipped exon start: 56482784
	Skipped exon end: 56485513
	Mutation start: 56482918
	Mutation end: 56482918
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.E1972*
exon_skip_460368_HNSC_TCGA-HD-A6I0-01.png
	Sample: TCGA-QK-A6IG-01
	Cancer type: HNSC
	ESID: exon_skip_460368
	Skipped exon start: 56482784
	Skipped exon end: 56485513
	Mutation start: 56482903
	Mutation end: 56482904
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: AATG
	AAchange: p.K1977fs
exon_skip_460368_HNSC_TCGA-QK-A6IG-01.png
exon_skip_82449_HNSC_TCGA-QK-A6IG-01.png
	Sample: TCGA-CQ-5327-01
	Cancer type: HNSC
	ESID: exon_skip_460368
	Skipped exon start: 56482784
	Skipped exon end: 56485513
	Mutation start: 56483703
	Mutation end: 56483704
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R1710fs
exon_skip_460368_HNSC_TCGA-CQ-5327-01.png
	Sample: TCGA-24-1549-01
	Cancer type: OV
	ESID: exon_skip_460322
	Skipped exon start: 56329483
	Skipped exon end: 56329554
	Mutation start: 56329537
	Mutation end: 56329537
	Mutation type: Nonsense_Mutation
	Reference seq: T
	Mutation seq: A
	AAchange: p.K7333*
exon_skip_460322_OV_TCGA-24-1549-01.png

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
NCIH2004RT_SOFT_TISSUE	56327844	56327954	56327939	56327939	Frame_Shift_Del	T	-	p.T5012fs
GP2D_LARGE_INTESTINE	56463274	56463507	56463452	56463452	Frame_Shift_Del	T	-	p.N3706fs
GP5D_LARGE_INTESTINE	56463274	56463507	56463452	56463452	Frame_Shift_Del	T	-	p.N3706fs
C33A_CERVIX	56468635	56474142	56470093	56470093	Frame_Shift_Del	T	-	p.K2900fs
CCK81_LARGE_INTESTINE	56468635	56474142	56470093	56470093	Frame_Shift_Del	T	-	p.K2900fs
GP2D_LARGE_INTESTINE	56482784	56485513	56483223	56483223	Frame_Shift_Del	T	-	p.K1870fs
GP5D_LARGE_INTESTINE	56482784	56485513	56483223	56483223	Frame_Shift_Del	T	-	p.K1870fs
HEC59_ENDOMETRIUM	56482784	56485513	56483287	56483287	Frame_Shift_Del	T	-	p.M1849fs
HEC1_ENDOMETRIUM	56482784	56485513	56484643	56484643	Frame_Shift_Del	T	-	p.T1397fs
HCT116_LARGE_INTESTINE	56482784	56485513	56485020	56485020	Frame_Shift_Del	T	-	p.N1271fs
HEC1_ENDOMETRIUM	56482784	56485513	56485020	56485020	Frame_Shift_Del	T	-	p.N1271fs
HEC1B_ENDOMETRIUM	56482784	56485513	56485020	56485020	Frame_Shift_Del	T	-	p.N1271fs
MFE319_ENDOMETRIUM	56468635	56474142	56471405	56471406	Frame_Shift_Ins	-	C	p.A2463fs
HEC1A_ENDOMETRIUM	56468635	56474142	56472952	56472953	Frame_Shift_Ins	-	T	p.N1947fs
HEC108_ENDOMETRIUM	56468635	56474142	56473106	56473107	Frame_Shift_Ins	-	T	p.I1896fs
MFE319_ENDOMETRIUM	56468635	56474142	56473106	56473107	Frame_Shift_Ins	-	T	p.I1896fs
HS742T_FIBROBLAST	56468635	56474142	56473106	56473107	Frame_Shift_Ins	-	T	p.I1896fs
CW2_LARGE_INTESTINE	56482784	56485513	56485019	56485020	Frame_Shift_Ins	-	T	p.N1271fs
SNUC1_LARGE_INTESTINE	56482784	56485513	56485019	56485020	Frame_Shift_Ins	-	T	p.N1271fs
GB1_CENTRAL_NERVOUS_SYSTEM	56468635	56474142	56470793	56470795	In_Frame_Del	ACA	-	p.2666_2667VV>V
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56327844	56327954	56327876	56327876	Missense_Mutation	C	T	p.E5033K
BICR18_UPPER_AERODIGESTIVE_TRACT	56327844	56327954	56327912	56327912	Missense_Mutation	T	C	p.T5021A
JHUEM7_ENDOMETRIUM	56329483	56329554	56329512	56329512	Missense_Mutation	G	T	p.S7257Y
JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56329483	56329554	56329538	56329538	Missense_Mutation	A	T	p.S7248R
MDAMB435S_SKIN	56333780	56333797	56333787	56333787	Missense_Mutation	C	A	p.G7201V
RERFLCAD1_LUNG	56334663	56334755	56334681	56334681	Missense_Mutation	C	A	p.R7486S
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56336857	56337020	56337009	56337009	Missense_Mutation	G	A	p.P7016S
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56336938	56337020	56337009	56337009	Missense_Mutation	G	A	p.P7016S
HEC151_ENDOMETRIUM	56393639	56393723	56393668	56393668	Missense_Mutation	T	C	p.N5564S
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56393639	56393723	56393711	56393711	Missense_Mutation	C	T	p.D5550N
AN3CA_ENDOMETRIUM	56394246	56394572	56394257	56394257	Missense_Mutation	A	G	p.S3239P
RERFLCAD1_LUNG	56394246	56394572	56394258	56394258	Missense_Mutation	C	A	p.Q3238H
GP5D_LARGE_INTESTINE	56394246	56394572	56394409	56394409	Missense_Mutation	C	A	p.S3188I
HCC1569_BREAST	56394246	56394572	56394553	56394553	Missense_Mutation	A	G	p.I3140T
SNU1040_LARGE_INTESTINE	56394772	56394931	56394777	56394777	Missense_Mutation	G	A	p.H5544Y
LN428_CENTRAL_NERVOUS_SYSTEM	56394772	56394931	56394897	56394897	Missense_Mutation	G	C	p.Q5504E
MERO84_LUNG	56394772	56394931	56394897	56394897	Missense_Mutation	G	C	p.Q5504E
786O_KIDNEY	56394772	56394931	56394906	56394906	Missense_Mutation	C	T	p.V5501M
SNU1_STOMACH	56394772	56394931	56394926	56394926	Missense_Mutation	C	T	p.R5494H
HCT15_LARGE_INTESTINE	56463274	56463507	56463359	56463359	Missense_Mutation	C	T	p.C3737Y
HRT18_LARGE_INTESTINE	56463274	56463507	56463359	56463359	Missense_Mutation	C	T	p.C3737Y
OMC1_CERVIX	56463274	56463507	56463365	56463365	Missense_Mutation	A	G	p.I3735T
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56463274	56463507	56463372	56463372	Missense_Mutation	C	T	p.A3733T
NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56463274	56463507	56463485	56463485	Missense_Mutation	C	T	p.G3695E
SARC9371_BONE	56466241	56466474	56466264	56466264	Missense_Mutation	C	T	p.E3629K
CCK81_LARGE_INTESTINE	56466241	56466474	56466386	56466386	Missense_Mutation	T	C	p.D3588G
ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56466241	56466474	56466423	56466423	Missense_Mutation	A	T	p.F3576I
SNU407_LARGE_INTESTINE	56468635	56474142	56468643	56468643	Missense_Mutation	T	C	p.T3384A
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56468699	56468699	Missense_Mutation	G	C	p.P3365R
NCIH2126_LUNG	56468635	56474142	56468701	56468701	Missense_Mutation	G	C	p.F3364L
NCIH1184_LUNG	56468635	56474142	56468718	56468718	Missense_Mutation	C	G	p.D3359H
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56468782	56468782	Missense_Mutation	T	G	p.K3337N
HEC251_ENDOMETRIUM	56468635	56474142	56468812	56468812	Missense_Mutation	G	T	p.N3327K
MFE319_ENDOMETRIUM	56468635	56474142	56469008	56469008	Missense_Mutation	T	C	p.Y3262C
MRKNU1_BREAST	56468635	56474142	56469128	56469128	Missense_Mutation	T	G	p.D3222A
UWB1289_OVARY	56468635	56474142	56469129	56469129	Missense_Mutation	C	G	p.D3222H
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56469251	56469251	Missense_Mutation	C	T	p.R3181K
SNU1040_LARGE_INTESTINE	56468635	56474142	56469290	56469290	Missense_Mutation	C	T	p.C3168Y
KON_UPPER_AERODIGESTIVE_TRACT	56468635	56474142	56469311	56469311	Missense_Mutation	T	A	p.E3161V
MDAMB361_BREAST	56468635	56474142	56469390	56469390	Missense_Mutation	C	T	p.E3135K
SUM159PT_BREAST	56468635	56474142	56469486	56469486	Missense_Mutation	A	C	p.L3103V
SLR23_KIDNEY	56468635	56474142	56469518	56469518	Missense_Mutation	G	A	p.S3092F
HEC265_ENDOMETRIUM	56468635	56474142	56469711	56469711	Missense_Mutation	T	C	p.N3028D
AGS_STOMACH	56468635	56474142	56469860	56469860	Missense_Mutation	T	G	p.K2978T
MFE319_ENDOMETRIUM	56468635	56474142	56469905	56469905	Missense_Mutation	G	A	p.P2963L
KYSE410_OESOPHAGUS	56468635	56474142	56470143	56470143	Missense_Mutation	G	A	p.P2884S
JHH2_LIVER	56468635	56474142	56470259	56470259	Missense_Mutation	C	G	p.G2845A
M980513_SKIN	56468635	56474142	56470445	56470445	Missense_Mutation	A	G	p.L2783P
SH4_SKIN	56468635	56474142	56470461	56470461	Missense_Mutation	T	G	p.K2778Q
MZ7MEL_SKIN	56468635	56474142	56470545	56470545	Missense_Mutation	C	T	p.V2750I
GP2D_LARGE_INTESTINE	56468635	56474142	56470595	56470595	Missense_Mutation	T	C	p.N2733S
GP5D_LARGE_INTESTINE	56468635	56474142	56470595	56470595	Missense_Mutation	T	C	p.N2733S
HEC108_ENDOMETRIUM	56468635	56474142	56470605	56470605	Missense_Mutation	G	A	p.H2730Y
SKOV3_OVARY	56468635	56474142	56470731	56470731	Missense_Mutation	T	C	p.T2688A
CCFSTTG1_CENTRAL_NERVOUS_SYSTEM	56468635	56474142	56470774	56470774	Missense_Mutation	A	T	p.S2673R
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56470787	56470787	Missense_Mutation	A	G	p.L2669P
OCILY10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56470787	56470787	Missense_Mutation	A	G	p.L2669P
NCIH1838_LUNG	56468635	56474142	56470855	56470855	Missense_Mutation	C	A	p.M2646I
SNU81_LARGE_INTESTINE	56468635	56474142	56470926	56470926	Missense_Mutation	C	A	p.D2623Y
NCIH1770_LUNG	56468635	56474142	56470976	56470976	Missense_Mutation	C	T	p.G2606E
NCIH2106_LUNG	56468635	56474142	56470976	56470976	Missense_Mutation	C	T	p.G2606E
CORL88_LUNG	56468635	56474142	56470981	56470981	Missense_Mutation	T	G	p.E2604D
GP2D_LARGE_INTESTINE	56468635	56474142	56471033	56471033	Missense_Mutation	A	G	p.I2587T
OVK18_OVARY	56468635	56474142	56471043	56471043	Missense_Mutation	C	T	p.G2584R
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56471061	56471061	Missense_Mutation	G	C	p.Q2578E
JHUEM7_ENDOMETRIUM	56468635	56474142	56471066	56471066	Missense_Mutation	G	T	p.S2576Y
647V_URINARY_TRACT	56468635	56474142	56471079	56471079	Missense_Mutation	C	T	p.D2572N
SW48_LARGE_INTESTINE	56468635	56474142	56471255	56471255	Missense_Mutation	C	T	p.G2513E
HCC2998_LARGE_INTESTINE	56468635	56474142	56471298	56471298	Missense_Mutation	G	A	p.P2499S
SAS_UPPER_AERODIGESTIVE_TRACT	56468635	56474142	56471351	56471351	Missense_Mutation	A	G	p.L2481P
SNU1040_LARGE_INTESTINE	56468635	56474142	56471447	56471447	Missense_Mutation	T	C	p.D2449G
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56471462	56471462	Missense_Mutation	G	A	p.A2444V
NCIH1734_LUNG	56468635	56474142	56471471	56471471	Missense_Mutation	G	T	p.A2441D
ES6_BONE	56468635	56474142	56471528	56471528	Missense_Mutation	C	G	p.R2422P
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	56468635	56474142	56471540	56471540	Missense_Mutation	T	C	p.D2418G
KYSE150_OESOPHAGUS	56468635	56474142	56471541	56471541	Missense_Mutation	C	T	p.D2418N
RKN_SOFT_TISSUE	56468635	56474142	56471601	56471601	Missense_Mutation	C	T	p.D2398N
NCIH510_LUNG	56468635	56474142	56471649	56471649	Missense_Mutation	A	G	p.S2382P
JHUEM7_ENDOMETRIUM	56468635	56474142	56471666	56471666	Missense_Mutation	G	A	p.A2376V
MDAMB361_BREAST	56468635	56474142	56471724	56471724	Missense_Mutation	C	T	p.D2357N
RCCFG2_KIDNEY	56468635	56474142	56472083	56472083	Missense_Mutation	T	C	p.Q2237R
HEC251_ENDOMETRIUM	56468635	56474142	56472215	56472215	Missense_Mutation	T	G	p.K2193T
8505C_THYROID	56468635	56474142	56472343	56472344	Missense_Mutation	GT	AA	p.D2150V
8505C_THYROID	56468635	56474142	56472344	56472344	Missense_Mutation	T	A	p.D2150V
HCC1195_LUNG	56468635	56474142	56472345	56472345	Missense_Mutation	C	T	p.D2150N
CAL72_BONE	56468635	56474142	56472351	56472351	Missense_Mutation	T	C	p.R2148G
SNU1040_LARGE_INTESTINE	56468635	56474142	56472420	56472420	Missense_Mutation	G	A	p.P2125S
A253_SALIVARY_GLAND	56468635	56474142	56472505	56472505	Missense_Mutation	C	A	p.M2096I
NCIH2887_LUNG	56468635	56474142	56472509	56472509	Missense_Mutation	T	C	p.E2095G
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56472692	56472692	Missense_Mutation	G	C	p.T2034R
NCIH3255_LUNG	56468635	56474142	56472782	56472782	Missense_Mutation	G	A	p.T2004I
SNU175_LARGE_INTESTINE	56468635	56474142	56472828	56472828	Missense_Mutation	A	T	p.L1989I
KM12_LARGE_INTESTINE	56468635	56474142	56472836	56472836	Missense_Mutation	G	A	p.T1986I
LS180_LARGE_INTESTINE	56468635	56474142	56472854	56472854	Missense_Mutation	G	T	p.T1980N
HEC251_ENDOMETRIUM	56468635	56474142	56472860	56472860	Missense_Mutation	A	G	p.V1978A
NUGC3_STOMACH	56468635	56474142	56472864	56472864	Missense_Mutation	G	A	p.P1977S
IM95_STOMACH	56468635	56474142	56473016	56473016	Missense_Mutation	A	G	p.I1926T
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56473023	56473023	Missense_Mutation	C	T	p.A1924T
EPLC272H_LUNG	56468635	56474142	56473064	56473064	Missense_Mutation	A	C	p.L1910W
OE21_OESOPHAGUS	56468635	56474142	56473094	56473094	Missense_Mutation	T	C	p.Y1900C
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56473165	56473165	Missense_Mutation	C	G	p.L1876F
NCIH2347_LUNG	56468635	56474142	56473287	56473287	Missense_Mutation	C	T	p.E1836K
JHUEM7_ENDOMETRIUM	56468635	56474142	56473311	56473311	Missense_Mutation	G	T	p.P1828T
U251MG_CENTRAL_NERVOUS_SYSTEM	56468635	56474142	56473500	56473500	Missense_Mutation	C	T	p.G1765S
NCIH650_LUNG	56468635	56474142	56473527	56473527	Missense_Mutation	T	C	p.I1756V
OE21_OESOPHAGUS	56468635	56474142	56473553	56473553	Missense_Mutation	C	G	p.R1747T
JHUEM7_ENDOMETRIUM	56468635	56474142	56473629	56473629	Missense_Mutation	C	A	p.D1722Y
HT115_LARGE_INTESTINE	56468635	56474142	56473682	56473682	Missense_Mutation	T	G	p.N1704T
A1207_CENTRAL_NERVOUS_SYSTEM	56468635	56474142	56473683	56473683	Missense_Mutation	T	C	p.N1704D
HARA_LUNG	56468635	56474142	56473770	56473770	Missense_Mutation	C	G	p.A1675P
COLO824_BREAST	56468635	56474142	56473839	56473839	Missense_Mutation	T	C	p.M1652V
PC9_LUNG	56468635	56474142	56473883	56473883	Missense_Mutation	G	A	p.A1637V
PC14_LUNG	56468635	56474142	56473883	56473883	Missense_Mutation	G	A	p.A1637V
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56473883	56473883	Missense_Mutation	G	A	p.A1637V
HCC1569_BREAST	56468635	56474142	56473904	56473904	Missense_Mutation	G	C	p.A1630G
JHU028_LUNG	56468635	56474142	56473928	56473928	Missense_Mutation	C	T	p.C1622Y
HCT15_LARGE_INTESTINE	56468635	56474142	56474063	56474063	Missense_Mutation	A	C	p.L1577R
HRT18_LARGE_INTESTINE	56468635	56474142	56474063	56474063	Missense_Mutation	A	C	p.L1577R
RCCFG2_KIDNEY	56468635	56474142	56474118	56474118	Missense_Mutation	T	G	p.I1559L
JHUEM7_ENDOMETRIUM	56482784	56485513	56482854	56482854	Missense_Mutation	G	T	p.S1993Y
ESS1_ENDOMETRIUM	56482784	56485513	56482855	56482855	Missense_Mutation	A	G	p.S1993P
JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56482866	56482866	Missense_Mutation	G	T	p.A1989D
KYSE30_OESOPHAGUS	56482784	56485513	56482872	56482872	Missense_Mutation	T	G	p.D1987A
FTC238_THYROID	56482784	56485513	56482877	56482877	Missense_Mutation	T	C	p.I1985M
SISO_CERVIX	56482784	56485513	56482916	56482916	Missense_Mutation	C	G	p.E1972D
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56482916	56482916	Missense_Mutation	C	G	p.E1972D
HS766T_PANCREAS	56482784	56485513	56482985	56482985	Missense_Mutation	C	G	p.E1949D
TT_OESOPHAGUS	56482784	56485513	56483001	56483001	Missense_Mutation	G	A	p.A1944V
LS513_LARGE_INTESTINE	56482784	56485513	56483016	56483016	Missense_Mutation	A	G	p.F1939S
SIHA_CERVIX	56482784	56485513	56483103	56483103	Missense_Mutation	G	T	p.P1910H
SISO_CERVIX	56482784	56485513	56483166	56483166	Missense_Mutation	C	T	p.C1889Y
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56483166	56483166	Missense_Mutation	C	T	p.C1889Y
CAL33_UPPER_AERODIGESTIVE_TRACT	56482784	56485513	56483176	56483176	Missense_Mutation	C	T	p.V1886M
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56483266	56483266	Missense_Mutation	G	T	p.H1856N
NCIH1869_LUNG	56482784	56485513	56483305	56483305	Missense_Mutation	C	T	p.E1843K
HCC1428_BREAST	56482784	56485513	56483323	56483323	Missense_Mutation	C	G	p.A1837P
J82_MATCHED_NORMAL_TISSUE	56482784	56485513	56483361	56483361	Missense_Mutation	T	C	p.H1824R
J82_URINARY_TRACT	56482784	56485513	56483361	56483361	Missense_Mutation	T	C	p.H1824R
SNUC5_LARGE_INTESTINE	56482784	56485513	56483390	56483390	Missense_Mutation	C	T	p.M1814I
SNU81_LARGE_INTESTINE	56482784	56485513	56483624	56483624	Missense_Mutation	C	A	p.K1736N
HCC2998_LARGE_INTESTINE	56482784	56485513	56483628	56483628	Missense_Mutation	C	T	p.R1735K
COLO668_LUNG	56482784	56485513	56483661	56483661	Missense_Mutation	T	A	p.H1724L
JHH2_LIVER	56482784	56485513	56483740	56483740	Missense_Mutation	C	T	p.G1698R
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56483742	56483742	Missense_Mutation	C	T	p.R1697H
PACADD137_PANCREAS	56482784	56485513	56483874	56483874	Missense_Mutation	A	G	p.L1653P
NCIH1734_LUNG	56482784	56485513	56483941	56483941	Missense_Mutation	G	T	p.H1631N
AN3CA_ENDOMETRIUM	56482784	56485513	56483991	56483991	Missense_Mutation	A	G	p.L1614P
SNU81_LARGE_INTESTINE	56482784	56485513	56484057	56484057	Missense_Mutation	C	A	p.R1592I
MDAMB134VI_BREAST	56482784	56485513	56484118	56484118	Missense_Mutation	G	C	p.L1572V
CCK81_LARGE_INTESTINE	56482784	56485513	56484127	56484127	Missense_Mutation	C	T	p.A1569T
PK45H_PANCREAS	56482784	56485513	56484132	56484132	Missense_Mutation	T	C	p.E1567G
TE11_OESOPHAGUS	56482784	56485513	56484286	56484286	Missense_Mutation	C	G	p.E1516Q
MFE280_ENDOMETRIUM	56482784	56485513	56484390	56484390	Missense_Mutation	C	A	p.G1481V
HCT15_LARGE_INTESTINE	56482784	56485513	56484402	56484402	Missense_Mutation	T	C	p.N1477S
HRT18_LARGE_INTESTINE	56482784	56485513	56484402	56484402	Missense_Mutation	T	C	p.N1477S
DOV13_OVARY	56482784	56485513	56484464	56484464	Missense_Mutation	C	T	p.M1456I
HS294T_SKIN	56482784	56485513	56484464	56484464	Missense_Mutation	C	T	p.M1456I
TE441T_SOFT_TISSUE	56482784	56485513	56484473	56484473	Missense_Mutation	T	A	p.E1453D
YD38_UPPER_AERODIGESTIVE_TRACT	56482784	56485513	56484475	56484475	Missense_Mutation	C	T	p.E1453K
KYM1_SOFT_TISSUE	56482784	56485513	56484559	56484559	Missense_Mutation	C	G	p.E1425Q
RKO_LARGE_INTESTINE	56482784	56485513	56484654	56484654	Missense_Mutation	T	C	p.Q1393R
SNUC2A_LARGE_INTESTINE	56482784	56485513	56484687	56484687	Missense_Mutation	A	G	p.M1382T
SNUC2B_LARGE_INTESTINE	56482784	56485513	56484687	56484687	Missense_Mutation	A	G	p.M1382T
OSC20_UPPER_AERODIGESTIVE_TRACT	56482784	56485513	56484704	56484704	Missense_Mutation	T	G	p.R1376S
OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56484747	56484747	Missense_Mutation	T	C	p.E1362G
BB65RCC_KIDNEY	56482784	56485513	56484906	56484906	Missense_Mutation	A	C	p.L1309W
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56485116	56485116	Missense_Mutation	C	T	p.R1239H
HEC251_ENDOMETRIUM	56482784	56485513	56485122	56485122	Missense_Mutation	T	C	p.N1237S
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	56482784	56485513	56485158	56485158	Missense_Mutation	T	C	p.E1225G
NCIH2722_PLEURA	56482784	56485513	56485168	56485168	Missense_Mutation	T	C	p.I1222V
RCCAB_KIDNEY	56482784	56485513	56485168	56485168	Missense_Mutation	T	C	p.I1222V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56485357	56485358	Missense_Mutation	CC	TT	p.E1159K
SISO_CERVIX	56482784	56485513	56485393	56485393	Missense_Mutation	C	T	p.V1147I
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56482784	56485513	56485393	56485393	Missense_Mutation	C	T	p.V1147I
2313287_STOMACH	56482784	56485513	56485428	56485428	Missense_Mutation	T	C	p.K1135R
YMB1E_BREAST	56482784	56485513	56485435	56485435	Missense_Mutation	T	A	p.N1133Y
BT483_BREAST	56482784	56485513	56485473	56485473	Missense_Mutation	G	A	p.S1120L
NCIH2009_LUNG	56482784	56485513	56485489	56485489	Missense_Mutation	C	G	p.E1115Q
PACADD135_PANCREAS	56482784	56485513	56485504	56485504	Missense_Mutation	A	G	p.C1110R
LS180_LARGE_INTESTINE	56504057	56504161	56504154	56504154	Missense_Mutation	A	G	p.M745T
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56394246	56394572	56394326	56394326	Nonsense_Mutation	C	A	p.E3216*
HCT15_LARGE_INTESTINE	56468635	56474142	56468775	56468775	Nonsense_Mutation	C	A	p.G3340*
HRT18_LARGE_INTESTINE	56468635	56474142	56468775	56468775	Nonsense_Mutation	C	A	p.G3340*
HT115_LARGE_INTESTINE	56468635	56474142	56468781	56468781	Nonsense_Mutation	C	A	p.E3338*
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56468635	56474142	56468856	56468856	Nonsense_Mutation	C	A	p.E3313*
HT115_LARGE_INTESTINE	56468635	56474142	56469141	56469141	Nonsense_Mutation	C	A	p.E3218*
LNCAPCLONEFGC_PROSTATE	56468635	56474142	56469825	56469825	Nonsense_Mutation	C	A	p.E2990*
HCT15_LARGE_INTESTINE	56468635	56474142	56473227	56473227	Nonsense_Mutation	G	A	p.R1856*
LU139_LUNG	56482784	56485513	56483091	56483091	Nonsense_Mutation	C	T	p.W1914*
SNU81_LARGE_INTESTINE	56482784	56485513	56483461	56483461	Nonsense_Mutation	C	A	p.E1791*
SNU81_LARGE_INTESTINE	56482784	56485513	56484298	56484298	Nonsense_Mutation	G	A	p.R1512*
2313287_STOMACH	56482784	56485513	56484997	56484997	Nonsense_Mutation	T	A	p.R1279*
HCC2998_LARGE_INTESTINE	56482784	56485513	56485006	56485006	Nonsense_Mutation	C	A	p.E1276*
HEC251_ENDOMETRIUM	56504057	56504161	56504149	56504149	Nonsense_Mutation	C	A	p.E747*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DST

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_460368	6	56482038:56482216:56482783:56485513:56489327:56489426	56482783:56485513	ENST00000370765.6	LGG	rs6459166	chr6:56482801	C/G	8.16e-09
exon_skip_460368	6	56482038:56482216:56482783:56485513:56489327:56489426	56482783:56485513	ENST00000370765.6	LGG	rs2230862	chr6:56484758	A/G	3.63e-06
exon_skip_460368	6	56482038:56482216:56482783:56485513:56489327:56489426	56482783:56485513	ENST00000370765.6	LGG	rs6459166	chr6:56482801	C/G	2.86e-03
exon_skip_460368	6	56482038:56482216:56482783:56485513:56489327:56489426	56482783:56485513	ENST00000370765.6	KIRC	rs6459166	chr6:56482801	C/G	1.86e-03
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	GBM	rs13194995	chr6:56470551	T/A	9.54e-04
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	HNSC	rs9382658	chr6:56471402	G/A	1.55e-03
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	HNSC	rs13209548	chr6:56470690	G/A	1.65e-03
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	LGG	rs13209548	chr6:56470690	G/A	5.76e-08
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	LGG	rs9382658	chr6:56471402	G/A	5.76e-08
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	LGG	rs13194995	chr6:56470551	T/A	9.82e-07
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	LGG	rs13209548	chr6:56470690	G/A	3.27e-03
exon_skip_460338	6	56468361:56468511:56468634:56474142:56475224:56475360	56468634:56474142	ENST00000370754.5,ENST00000312431.6,ENST00000361203.3,ENST00000446842.2,ENST00000370769.4	LGG	rs9382658	chr6:56471402	G/A	3.27e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DST

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DST

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RelatedDrugs for DST

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for DST

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for DST

Exon skipping events across known transcript of Ensembl for DST from UCSC genome browser

Gene isoform structures and expression levels for DST

Exon skipping events with PSIs in TCGA for DST

Exon skipping events with PSIs in GTEx for DST

Open reading frame (ORF) annotation in the exon skipping event for DST

Infer the effects of exon skipping event on protein functional features for DST

SNVs in the skipped exons for DST

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DST

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DST

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DST

RelatedDrugs for DST

RelatedDiseases for DST